AQP2 Chromosome 12
Aquaporin 2
Upload your DNA to see your personal genotypes for variants in AQP2.
What This Gene Does
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Aquaporins
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000167580
Associated Conditions (6)
Diabetes insipidus
nephrogenic
autosomal
Nephrogenic diabetes insipidus
Hereditary disease
Inborn genetic diseases
Key Variants
RS138000704
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS139064235
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS140262864
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS200279968
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS200706192
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS201195539
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS201812544
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS370232864
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373700329
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761776136
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS764185466
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
RS770932012
Conflicting classifications of pathogenicity
Diabetes insipidus, nephrogenic, autosomal
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748006253 | Health Risk | Pathogenic | — |
| RS764380594 | Health Risk | Pathogenic | Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus |
| RS770810694 | Health Risk | Pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS781478659 | Health Risk | Pathogenic | — |
| RS104894326 | Health Risk | Pathogenic/Likely pathogenic | Nephrogenic diabetes insipidus, Diabetes insipidus, nephrogenic |
| RS104894330 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS104894333 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS104894334 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS104894339 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS1303076207 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS1481158831 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS149659001 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS28931580 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS370879515 | Health Risk | Pathogenic/Likely pathogenic | Nephrogenic diabetes insipidus, Diabetes insipidus, nephrogenic |
| RS752623874 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS755694590 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |
| RS772201159 | Health Risk | Pathogenic/Likely pathogenic | Diabetes insipidus, nephrogenic, autosomal |